摘要
目的:研究家族性ACTH-非依赖性双侧肾上腺大结节增生(AIMAH)的临床表型及遗传学特征。方法:以4例AIMAH患者为先证进行家族调查。4个家族直系成员74人中,接受筛查者44人,发现AIMAH患者15例(含先证者),除家族1有3例外,余3个家族均有4例。男4例,女11例,平均年龄53岁。绘制系谱图,并对其临床和遗传学特点进行分析。结果:15例家族性AIMAH患者中,典型库欣综合征3例,12例(80%)表现为高血压和(或)糖尿病等亚临床库欣症状。4个家系中有连续2代以上垂直传递发病,符合常染色体显性遗传模式。结论:AIMAH有家族性倾向,并呈现常染色体显性遗传特点,遗传因素可能为其重要致病原因。因筛查早期发现之故,临床表型以亚临床库欣综合征为特点。
Objective：To investigate the clinical and genetical features of familial adrenocorticotropin-independent macronodular adrenal hyperplasia（AIMAH）. Methods：Four families including 74 members and only 44 were screened. Fifteen AIMAH patients with 4 males and 11 females were found, including 3 in family 1 and 4 in each the other 3 families respectively. The mean age was 53 years. The clinical and inherited data for all the family members of these 4 pedigrees were collected. Results：In all the 15 AIMAH patients of the 4 families, only 3 patients demonstrated Cushing＇s syndrome （CS）, but the other 11 （80%） just hypertension or diabetes mellitus without any signs of CS. At least two successive affected generations were observed in these pedigrees. Conclusions： The genetical characteristics of these familial AIMAH kindreds is according with that of autosomal dominant inheritance disase. This demonstrates that hereditary factors may be an important causative agent in the developing of AIMAH. Subclinical CS was the main clinical phenotype of the screened familial AIMAH.
出处
《临床泌尿外科杂志》
北大核心
2010年第6期424-428,共5页
Journal of Clinical Urology
关键词
库欣综合征
家族性
肾上腺增生
遗传
Cusbing＇s syndrome
familial
adrenal hyperplasia
genetical
